Experiences from treating seven adult 5q spinal muscular atrophy patients with Nusinersen

Background: The antisense oligonucleotide Nusinersen recently became the first approved drug against spinal muscular atrophy (SMA). It was approved for all ages, albeit the clinical trials were conducted exclusively on children. Hence, clinical data on adults being treated with Nusinersen is scarce. In this case series, we report on drug application, organizational demands, and preliminary effects during the first 10 months of treatment with Nusinersen in seven adult patients. Methods: All patients received intrathecal injections with Nusinersen. In cases with severe spinal deformities, we performed computed tomography (CT)-guided applications. We conducted a total of 40 administrations of Nusinersen. We evaluated the patients with motor, pulmonary, and laboratory assessments, and tracked patient-reported outcome. Results: Intrathecal administration of Nusinersen was successful in most patients, even though access to the lumbar intrathecal space in adults with SMA is often challenging. No severe adverse events occurred. Six of the seven patients reported stabilization of motor function or reduction in symptom severity. The changes in the assessed scores did not reach a significant level within this short time period. Conclusions: Treating adult SMA patients with Nusinersen is feasible and most patients consider it beneficial. It demands a complex organizational and interdisciplinary effort. Due to the slowly decreasing motor functions in adult SMA patients, long observation phases for this recently approved treatment are needed to allow conclusions about effectiveness of Nusinersen in adults

Physiotherapy for Cervical Dystonia: A Systematic Review of Randomised Controlled Trials

Physiotherapy is mentioned as an adjunctive treatment to improve the symptoms of cervical dystonia in terms of pain, function and quality of life. However, botulinum neurotoxin injection remains the treatment of choice. This systematic review emphasizes physical therapy and evaluates it by including six studies. The methodology is based on a previous systematic review on this topic to provide better comparability and actuality. For this purpose, two databases were searched using the previously published keywords. This time, only randomised controlled trials were evaluated to increase the power. In conclusion, additional physical therapy and active home exercise programs appear to be useful. Further research should focus on the dose–response principle to emphasize physical therapy treatment modalities

The impact of Post-COVID-Syndrome on functioning – results from a community survey in patients after mild and moderate SARS-CoV-2-infections in Germany

Background!#!In COVID-19 survivors a relatively high number of long-term symptoms have been observed. Besides impact on quality of life, these symptoms (now called Post-COVID-Syndrome) may have an impact on functioning and may also hinder to participation in social life in affected people. However, little is known about developing such syndrome a for patients with mild and moderate COVID-19 who did not need hospitalization or intensive care.!##!Methods!#!A cross-sectional study in 1027 patients with mild or moderate COVID-19 was performed in two communities in Bavaria, Germany. The Rehabilitation-Needs-Survey (RehabNeS) including the Short Form 36 Health Survey (SF-36) on health-related quality of life, was used. Descriptive statistics were calculated.!##!Results!#!In all, 97.5% of patients reported one symptom in the infection stage, such as fatigue, respiratory problems, limitations of the senses of taste and smell, fear and anxiety and other symptoms. In this time period, 84.1% of the participants experienced activity limitations and participation restrictions such as carrying out daily routines, handling stress, getting household tasks done, caring for/supporting others, and relaxing and leisure concerns. In all, 61.9% of participants reported persisting symptoms more than 3 months after infection. These were fatigue, sleep disturbances, respiratory problems, pain, fear and anxiety, and restrictions in movement; 49% of the participants reported activity limitations and participation restrictions. Predominately, these were handling stress, carrying out daily routines, looking after one's health, relaxing and leisure activities and doing house work. The impacts on quality of life and vocational performance were rather low.!##!Conclusion!#!The results show that long-term symptoms after mild and moderate COVID-19 are common and lead to limitations of activities and participation. However, it seems that in most cases they are not severe and do not lead to frequent or serious issues with quality of life or work ability

Manual therapy of infants with postural and movement asymmetries and positional preference

<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>There are different therapeutic approaches to persistent positional preference (kinematic imbalance due to suboccipital strain, KISS) in infants. There are no evidence-based or controlled studies investigating the effect of manual medicine treatment in children aged 3–6 months, particularly in combination with a home exercise programme. The presented monocentric study on one-time manual medicine treatment of infants aged 14–24 exhibiting these symptoms aims to close this gap.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>This study comprises a controlled double-blind trial and per-protocol-analysis. Primary outcome was the 4-item symmetry score (4–17 points). The second measurement was performed after 4–6 weeks.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>A total of 62 infants were treated and evaluated (mean age 17 weeks). The intervention and control groups started with a symmetry score of 12.9 ± 2.1 and 12.5 ± 1.7 points, respectively. In the intervention group the score improved by 4.9 ± 2.4 to 8.0 ± 2.7 points, in the control group it improved by 2.9 ± 2.9 to 9.6 ± 3.0 points. The difference between the groups was statistically significant (<jats:italic>p</jats:italic> = 0.03). Both groups had significantly better values over time (<jats:italic>p</jats:italic> < 0.001). No adverse events or side effects were observed.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Manual medicine treatment of infants with postural and movement asymmetries as well as positional preference in combination with a home exercise programme is superior to a home exercise programme alone. Both treatment concepts achieved significant improvements. However, the manual medicine treatment played an important role in reducing the symmetry score value for the affected children, such they were no longer in need of treatment.</jats:p></jats:sec&gt

Study protocol: multimodal physiotherapy as an add-on treatment to botulinum neurotoxin type A therapy for patients with cervical dystonia: DysPT-multi—a prospective, multicentre, single-blind, randomized, controlled study

Background!#!Botulinum neurotoxin (BoNT) is currently the best therapeutic option in the treatment for cervical dystonia (CD). Additional treatments like physiotherapy (PT) may even improve the results of the BoNT injection with type A (BoNT-A), but there are no definite recommendations. In the last few years, some studies showed tendencies for PT as an adjuvant therapy to benefit. However, high-quality studies are required.!##!Methods!#!This study is a multicentre, randomized, single-blind, controlled trial to demonstrate the effectiveness of a multimodal PT program compared to a nonspecific cupping therapy, additionally to the BoNT-A therapy. Two hundred participants will be assigned into the multimodal PT plus BoNT intervention arm or the BoNT plus cupping arm using randomization. Primary endpoint is the total Score of Toronto Western Spasmodic Rating Scale (TWSTRS). Secondary endpoints are the mobility of the cervical spine (range of motion, ROM), the TWSTRS subscales, and the quality of life (measured by questionnaires: CDQ-24 and SF-36). Patients will be single-blind assessed every 3 months according to their BoNT injection treatment over a period of 9 months.!##!Discussion!#!The study aims to determine the effectiveness and therefore potential benefit of an additional multimodal physiotherapy for standardized treatment with BoNT-A in patients with CD, towards the BoNT-therapy alone. This largest randomized controlled trial in this field to date is intended to generate missing evidence for therapy guidelines.!##!Trial registration!#!The study was registered in the German Clinical Study Register before the start of the patient recruitment ( DRKS00020411 ; date: 21.01.2020)